A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12333788



Internal ID6601392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44870479..44886182hg38UCSC Ensembl
Innerchr6:44870479..44886182hg38UCSC Ensembl
Outerchr6:44869979..44886682hg38UCSC Ensembl
chr6:44838216..44853919hg19UCSC Ensembl
Innerchr6:44838216..44853919hg19UCSC Ensembl
Outerchr6:44837716..44854419hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3815704
hg1915704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608841
Supporting Variants
SamplesNA20772
Known GenesSUPT3H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12333788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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