A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12561679



Internal ID3429373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136763967..136767984hg38UCSC Ensembl
Innerchr6:136763967..136767984hg38UCSC Ensembl
Outerchr6:136763730..136768203hg38UCSC Ensembl
chr6:137085105..137089122hg19UCSC Ensembl
Innerchr6:137085105..137089122hg19UCSC Ensembl
Outerchr6:137084868..137089341hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg384018
hg194018
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610929
Supporting Variants
SamplesHG03064
Known GenesMAP3K5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12561679
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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