A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608772



Internal ID6995696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40397755..40401099hg38UCSC Ensembl
Innerchr6:40397759..40401095hg38UCSC Ensembl
Outerchr6:40397751..40401103hg38UCSC Ensembl
chr6:40365494..40368838hg19UCSC Ensembl
Innerchr6:40365498..40368834hg19UCSC Ensembl
Outerchr6:40365490..40368842hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383345
hg193345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12326781, essv12326776, essv12326764, essv12326785, essv12326770, essv12326787, essv12326791, essv12326755, essv12326780, essv12326792, essv12326754, essv12326790, essv12326772, essv12326762, essv12326782, essv12326761, essv12326760, essv12326786, essv12326769, essv12326758, essv12326765, essv12326788, essv12326768, essv12326756, essv12326774, essv12326759, essv12326779, essv12326793, essv12326757, essv12326775, essv12326783, essv12326763, essv12326777, essv12326752, essv12326753, essv12326773, essv12326789, essv12326784, essv12326771, essv12326766, essv12326778, essv12326767
SamplesHG04094, NA12340, HG02215, NA12400, HG03796, NA19762, HG02655, HG00346, HG01365, HG00311, HG02143, HG00325, HG00323, HG00253, NA19921, HG00290, NA12489, NA20800, HG00266, HG00732, HG00275, HG01119, HG01777, HG01512, HG00373, HG02657, HG01613, HG01383, HG00321, HG00140, HG03634, HG01286, NA18531, HG01131, HG02220, HG00107, HG00371, HG01556, HG00342, NA11843, HG00105, HG01097
Known GenesLRFN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608772
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer