A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750836



Internal ID12637702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40038107..40093576hg38UCSC Ensembl
Innerchr1:40503779..40559248hg19UCSC Ensembl
Innerchr1:40276366..40331835hg18UCSC Ensembl
Innerchr1:40172872..40228341hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3855470
hg1955470
hg1855470
hg1755470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981953, essv6988472
SamplesBEC_508
Known GenesCAP1, PPT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750836
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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