A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750892



Internal ID12984444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:37236666..37444453hg38UCSC Ensembl
Innerchr10:37525594..37733381hg19UCSC Ensembl
Innerchr10:37565600..37773387hg18UCSC Ensembl
Innerchr10:37565600..37773387hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38207788
hg19207788
hg18207788
hg17207788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984995, essv6984993, essv6990058, essv6984994, essv6990057
SamplesSPC_3
Known GenesLINC00993
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)esv2750892
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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