A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6345474



Internal ID9322877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54770264..54861667hg38UCSC Ensembl
Outerchr19:54769893..54862037hg38UCSC Ensembl
Innerchr19:55281716..55373122hg19UCSC Ensembl
Outerchr19:55281345..55373492hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3892145
hg1992148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661467
Supporting Variants
SamplesHG01441
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6345474
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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