A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751805



Internal ID12638671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54739639..54837236hg38UCSC Ensembl
Innerchr19:55251085..55348691hg19UCSC Ensembl
Innerchr19:59942897..60040503hg18UCSC Ensembl
Innerchr19:59942897..60040503hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3897598
hg1997607
hg1897607
hg1797607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145e55
Supporting Variantsessv6990031, essv6984846, essv6984845
SamplesSPC_184
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751805
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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