A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596530



Internal ID6983845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:71951518..71953685hg38UCSC Ensembl
Innerchr3:71951518..71953685hg38UCSC Ensembl
Outerchr3:71951268..71953950hg38UCSC Ensembl
chr3:72000669..72002836hg19UCSC Ensembl
Innerchr3:72000669..72002836hg19UCSC Ensembl
Outerchr3:72000419..72003101hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg382168
hg192168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11038391, essv11038393, essv11038385, essv11038386, essv11038395, essv11038388, essv11038384, essv11038390, essv11038394, essv11038387, essv11038392, essv11038389
SamplesHG02628, NA19399, NA19038, NA19317, NA19036, HG03123, NA19436, NA19375, NA19223, HG03063, NA19116, NA19430
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596530
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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