A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600583



Internal ID6987625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56673817..56678547hg38UCSC Ensembl
Innerchr4:56673817..56678547hg38UCSC Ensembl
Outerchr4:56673496..56678888hg38UCSC Ensembl
chr4:57539983..57544713hg19UCSC Ensembl
Innerchr4:57539983..57544713hg19UCSC Ensembl
Outerchr4:57539662..57545054hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384731
hg194731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11441771, essv11441774, essv11441793, essv11441787, essv11441788, essv11441726, essv11441740, essv11441737, essv11441784, essv11441749, essv11441785, essv11441780, essv11441790, essv11441777, essv11441724, essv11441770, essv11441789, essv11441779, essv11441729, essv11441773, essv11441725, essv11441761, essv11441750, essv11441723, essv11441747, essv11441781, essv11441754, essv11441776, essv11441734, essv11441757, essv11441768, essv11441786, essv11441764, essv11441769, essv11441745, essv11441783, essv11441732, essv11441760, essv11441775, essv11441751, essv11441782, essv11441762, essv11441755, essv11441753, essv11441743, essv11441778, essv11441758, essv11441759, essv11441744, essv11441731, essv11441763, essv11441772, essv11441766, essv11441756, essv11441739, essv11441792, essv11441735, essv11441791, essv11441741, essv11441746, essv11441748, essv11441752, essv11441728, essv11441730, essv11441738, essv11441733, essv11441765, essv11441767, essv11441742, essv11441736, essv11441727
SamplesNA19028, HG03559, NA19141, HG02496, NA19664, HG02337, HG02891, HG03130, NA18486, HG03298, HG03515, HG01924, HG02621, HG02811, NA18489, NA19198, HG03342, NA19197, HG03224, NA20287, NA19681, NA19130, HG02505, HG02315, NA19238, NA19385, HG02471, HG02427, HG01058, NA19209, HG03114, HG02882, HG03369, HG03270, HG02819, NA19247, HG02334, NA18933, NA19184, NA19043, NA19236, HG02554, HG01880, HG02537, HG03123, NA18879, HG03476, HG02445, NA19395, HG03109, HG03567, HG02330, HG02667, HG02759, HG02501, HG01958, HG02837, NA20351, NA19144, NA19439, HG01912, HG03066, NA19468, HG01254, HG03351, HG02679, NA18876, HG03401, NA19121, HG03303, HG03271
Known GenesHOPX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600583
Frequency
Sample Size2504
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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