A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12525075



Internal ID1056468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121203353..121256696hg38UCSC Ensembl
Innerchr6:121203353..121256696hg38UCSC Ensembl
Outerchr6:121202853..121257196hg38UCSC Ensembl
chr6:121524499..121577842hg19UCSC Ensembl
Innerchr6:121524499..121577842hg19UCSC Ensembl
Outerchr6:121523999..121578342hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3853344
hg1953344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610584
Supporting Variants
SamplesHG00675
Known GenesTBC1D32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12525075
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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