A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12442238



Internal ID3574500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77730791..77737022hg38UCSC Ensembl
Innerchr6:77730791..77737022hg38UCSC Ensembl
Outerchr6:77730556..77737266hg38UCSC Ensembl
chr6:78440508..78446739hg19UCSC Ensembl
Innerchr6:78440508..78446739hg19UCSC Ensembl
Outerchr6:78440273..78446983hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg386232
hg196232
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609641
Supporting Variants
SamplesHG03162
Known GenesMEI4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12442238
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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