A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787143



Internal ID19182448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148175602..148186516hg38UCSC Ensembl
Innerchr7:147872694..147883608hg19UCSC Ensembl
Innerchr7:147503627..147514541hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3810915
hg1910915
hg1810915
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891231
Supporting Variants
Samples
Known GenesCNTNAP2, MIR548T
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787143
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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