A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586371



Internal ID6626684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71021505..71024100hg38UCSC Ensembl
Innerchr1:71021506..71024099hg38UCSC Ensembl
Outerchr1:71021504..71024101hg38UCSC Ensembl
chr1:71487188..71489783hg19UCSC Ensembl
Innerchr1:71487189..71489782hg19UCSC Ensembl
Outerchr1:71487187..71489784hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382596
hg192596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9964806, essv9964809, essv9964805, essv9964819, essv9964813, essv9964800, essv9964822, essv9964815, essv9964795, essv9964803, essv9964818, essv9964797, essv9964824, essv9964812, essv9964793, essv9964794, essv9964802, essv9964814, essv9964804, essv9964825, essv9964807, essv9964816, essv9964798, essv9964817, essv9964801, essv9964821, essv9964799, essv9964823, essv9964811, essv9964810, essv9964796, essv9964820, essv9964808
SamplesHG03370, HG03135, NA18520, NA19222, NA19819, NA18874, HG03055, HG03247, HG03452, HG01915, NA19017, NA19701, NA19438, NA19028, HG02455, HG02646, HG03300, NA19908, HG03052, HG02325, HG03209, NA19102, HG01914, HG03547, NA19307, NA19446, HG03476, HG01912, HG03077, NA19198, HG03372, NA18853, HG02860
Known GenesPTGER3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586371
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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