A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751788



Internal ID12638654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42736227..43207440hg38UCSC Ensembl
Innerchr19:43240379..43711592hg19UCSC Ensembl
Innerchr19:47932219..48403432hg18UCSC Ensembl
Innerchr19:47932219..48403432hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38471214
hg19471214
hg18471214
hg17471214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141e55
Supporting Variantsessv6982452, essv6989625
SamplesBEC_446
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8
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)esv2751788
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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