A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559770



Internal ID2561586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135461010..135462552hg38UCSC Ensembl
Innerchr6:135461020..135462542hg38UCSC Ensembl
Outerchr6:135461000..135462562hg38UCSC Ensembl
chr6:135782148..135783690hg19UCSC Ensembl
Innerchr6:135782158..135783680hg19UCSC Ensembl
Outerchr6:135782138..135783700hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381543
hg191543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610895
Supporting Variants
SamplesNA19467
Known GenesAHI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559770
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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