A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609439



Internal ID6649669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70439264..70443925hg38UCSC Ensembl
Innerchr6:70439314..70443875hg38UCSC Ensembl
Outerchr6:70439214..70443975hg38UCSC Ensembl
chr6:71148967..71153628hg19UCSC Ensembl
Innerchr6:71149017..71153578hg19UCSC Ensembl
Outerchr6:71148917..71153678hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12411304
SamplesNA18620
Known GenesFAM135A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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