A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576163



Internal ID489598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144406981..144419415hg38UCSC Ensembl
Innerchr6:144407012..144419384hg38UCSC Ensembl
Outerchr6:144406950..144419446hg38UCSC Ensembl
chr6:144728117..144740551hg19UCSC Ensembl
Innerchr6:144728148..144740520hg19UCSC Ensembl
Outerchr6:144728086..144740582hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3812435
hg1912435
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611109
Supporting Variants
SamplesHG00173
Known GenesUTRN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576163
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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