A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893270



Internal ID19184090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:124369921..124399264hg38UCSC Ensembl
Outerchr2:124369921..124399264hg38UCSC Ensembl
Innerchr2:125127498..125156841hg19UCSC Ensembl
Outerchr2:125127498..125156841hg19UCSC Ensembl
Innerchr2:124843968..124873311hg18UCSC Ensembl
Outerchr2:124843968..124873311hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3829344
hg1929344
hg1829344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779095
Samples
Known GenesCNTNAP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893270
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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