A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12321857



Internal ID1771649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37873676..37926815hg38UCSC Ensembl
chr6:37841452..37894591hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3853140
hg1953140
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608723
Supporting Variants
SamplesHG01628
Known GenesZFAND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12321857
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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