A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989242



Internal ID12625488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23968961..24383562hg38UCSC Ensembl
Innerchr13:24543100..24957700hg19UCSC Ensembl
Innerchr13:23441100..23855700hg18UCSC Ensembl
Innerchr13:23441100..23855700hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38414602
hg19414601
hg18414601
hg17414601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751136
Supporting Variants
SamplesBEC_24
Known GenesC1QTNF9, MIR2276, SPATA13, SPATA13-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989242
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer