A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12584998



Internal ID6954077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151569696..151571327hg38UCSC Ensembl
Innerchr6:151569746..151571277hg38UCSC Ensembl
Outerchr6:151569618..151571405hg38UCSC Ensembl
chr6:151890831..151892462hg19UCSC Ensembl
Innerchr6:151890881..151892412hg19UCSC Ensembl
Outerchr6:151890753..151892540hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381632
hg191632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611269
Supporting Variants
SamplesNA21133
Known GenesCCDC170
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12584998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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