A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751784



Internal ID12638650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22384342..24322858hg38UCSC Ensembl
Innerchr19:22567144..24505660hg19UCSC Ensembl
Innerchr19:22358984..24297500hg18UCSC Ensembl
Innerchr19:22358984..24297500hg17UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg381938517
hg191938517
hg181938517
hg171938517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985665, essv6981746, essv6981745, essv6981747, essv6988446
SamplesBEC_333
Known GenesHAVCR1P1, LOC100132815, LOC100996349, LOC440518, RPSAP58, ZNF254, ZNF492, ZNF675, ZNF681, ZNF724P, ZNF726, ZNF728, ZNF730, ZNF91, ZNF98, ZNF99
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)esv2751784
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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