A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647886



Internal ID6687939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44094513..44095152hg38UCSC Ensembl
Innerchr22:44094513..44095152hg38UCSC Ensembl
Outerchr22:44094246..44095419hg38UCSC Ensembl
chr22:44490393..44491032hg19UCSC Ensembl
Innerchr22:44490393..44491032hg19UCSC Ensembl
Outerchr22:44490126..44491299hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16436758, essv16436745, essv16436777, essv16436785, essv16436750, essv16436762, essv16436747, essv16436761, essv16436778, essv16436771, essv16436740, essv16436768, essv16436748, essv16436754, essv16436760, essv16436766, essv16436744, essv16436763, essv16436752, essv16436782, essv16436742, essv16436775, essv16436755, essv16436773, essv16436749, essv16436756, essv16436774, essv16436751, essv16436786, essv16436746, essv16436757, essv16436770, essv16436743, essv16436741, essv16436753, essv16436769, essv16436759, essv16436780, essv16436781, essv16436772, essv16436764, essv16436779, essv16436765, essv16436784, essv16436783, essv16436776, essv16436767
SamplesHG01513, HG02808, NA18861, HG00318, HG01519, NA19222, HG02661, HG01342, HG00731, HG00245, HG02223, HG02419, NA20362, HG00148, HG01286, NA19461, NA20805, NA19780, NA21120, HG02811, NA20586, HG01435, NA19982, HG01140, HG01122, NA19658, NA12777, HG02756, HG00640, NA20767, NA20512, HG01766, NA12275, HG01281, NA20821, HG02545, HG01702, NA20813, NA19723, HG02238, HG03367, HG01303, NA20359, HG01791, HG00272, NA20899, HG01617
Known GenesPARVB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647886
Frequency
Sample Size2504
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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