A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12411302



Internal ID2413118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70436013..70439050hg38UCSC Ensembl
Innerchr6:70436063..70439000hg38UCSC Ensembl
Outerchr6:70435963..70439100hg38UCSC Ensembl
chr6:71145716..71148753hg19UCSC Ensembl
Innerchr6:71145766..71148703hg19UCSC Ensembl
Outerchr6:71145666..71148803hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609438
Supporting Variants
SamplesHG03740
Known GenesFAM135A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12411302
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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