A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430703



Internal ID6431117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75937329..75961056hg38UCSC Ensembl
Innerchr6:75937329..75961056hg38UCSC Ensembl
Outerchr6:75936829..75961556hg38UCSC Ensembl
chr6:76647046..76670773hg19UCSC Ensembl
Innerchr6:76647046..76670773hg19UCSC Ensembl
Outerchr6:76646546..76671273hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3823728
hg1923728
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609584
Supporting Variants
SamplesNA20505
Known GenesIMPG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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