A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586816



Internal ID6627125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92719092..92720497hg38UCSC Ensembl
Innerchr1:92719093..92720497hg38UCSC Ensembl
Outerchr1:92719092..92720498hg38UCSC Ensembl
chr1:93184649..93186054hg19UCSC Ensembl
Innerchr1:93184650..93186054hg19UCSC Ensembl
Outerchr1:93184649..93186055hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10019271, essv10019265, essv10019270, essv10019269, essv10019256, essv10019255, essv10019263, essv10019259, essv10019267, essv10019276, essv10019273, essv10019272, essv10019277, essv10019261, essv10019274, essv10019264, essv10019260, essv10019266, essv10019262, essv10019258, essv10019257, essv10019275, essv10019268, essv10019278
SamplesHG03247, NA18510, HG02485, HG03370, HG03040, HG02143, NA19917, NA19137, HG03212, HG01048, HG03369, HG01670, HG01162, NA18853, HG02332, NA19308, NA19206, NA18517, HG02501, NA19019, HG02308, HG02974, NA18873, HG02051
Known GenesEVI5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586816
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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