A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12420317



Internal ID1206058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73429586..73430861hg38UCSC Ensembl
Innerchr6:73429586..73430861hg38UCSC Ensembl
Outerchr6:73429285..73431160hg38UCSC Ensembl
chr6:74139309..74140584hg19UCSC Ensembl
Innerchr6:74139309..74140584hg19UCSC Ensembl
Outerchr6:74139008..74140883hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609510
Supporting Variants
SamplesHG01075
Known GenesMB21D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12420317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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