A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12560845



Internal ID4493319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136400305..136416638hg38UCSC Ensembl
Innerchr6:136400455..136416488hg38UCSC Ensembl
Outerchr6:136400155..136416788hg38UCSC Ensembl
chr6:136721443..136737776hg19UCSC Ensembl
Innerchr6:136721593..136737626hg19UCSC Ensembl
Outerchr6:136721293..136737926hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3816334
hg1916334
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610915
Supporting Variants
SamplesHG03995
Known GenesMAP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12560845
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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