A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983700



Internal ID12975784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24539507..24615049hg38UCSC Ensembl
Innerchr13:25113645..25189187hg19UCSC Ensembl
Innerchr13:24011645..24087187hg18UCSC Ensembl
Innerchr13:24011645..24087187hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3875543
hg1975543
hg1875543
hg1775543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751139
Supporting Variants
SamplesBEC_614
Known GenesTPTE2P6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983700
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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