A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12524796



Internal ID1056213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121084278..121171832hg38UCSC Ensembl
Innerchr6:121084278..121171832hg38UCSC Ensembl
Outerchr6:121083778..121172332hg38UCSC Ensembl
chr6:121405424..121492978hg19UCSC Ensembl
Innerchr6:121405424..121492978hg19UCSC Ensembl
Outerchr6:121404924..121493478hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3887555
hg1987555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610580
Supporting Variants
SamplesHG00675
Known GenesTBC1D32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12524796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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