A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12533018



Internal ID2534858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123814146..123816286hg38UCSC Ensembl
Innerchr6:123814146..123816286hg38UCSC Ensembl
Outerchr6:123813920..123816534hg38UCSC Ensembl
chr6:124135291..124137431hg19UCSC Ensembl
Innerchr6:124135291..124137431hg19UCSC Ensembl
Outerchr6:124135065..124137679hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382141
hg192141
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610639
Supporting Variants
SamplesHG02374
Known GenesNKAIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12533018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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