A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12252062



Internal ID2253911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30636336..30642406hg38UCSC Ensembl
Innerchr6:30636336..30642406hg38UCSC Ensembl
Outerchr6:30636121..30642649hg38UCSC Ensembl
chr6:30604113..30610183hg19UCSC Ensembl
Innerchr6:30604113..30610183hg19UCSC Ensembl
Outerchr6:30603898..30610426hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg386071
hg196071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608513
Supporting Variants
SamplesNA19920
Known GenesATAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12252062
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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