A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12567270



Internal ID3046785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139682601..139683982hg38UCSC Ensembl
Innerchr6:139682640..139683943hg38UCSC Ensembl
Outerchr6:139682562..139684021hg38UCSC Ensembl
chr6:140003738..140005119hg19UCSC Ensembl
Innerchr6:140003777..140005080hg19UCSC Ensembl
Outerchr6:140003699..140005158hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg381382
hg191382
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610981
Supporting Variants
SamplesHG02681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12567270
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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