A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3870



Internal ID9625385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1389149..2092899hg38UCSC Ensembl
Innerchr1:1324529..2024338hg19UCSC Ensembl
Innerchr1:1314392..2014198hg18UCSC Ensembl
Innerchr1:1409796..2056500hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38703751
hg19699810
hg18699807
hg17646705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757717
Supporting Variants
SamplesNA18994
Known GenesANKRD65, ATAD3A, ATAD3B, ATAD3C, C1orf233, CALML6, CCNL2, CDK11A, CDK11B, GABRD, GNB1, KIAA1751, LOC148413, MIB2, MMP23A, MMP23B, MRPL20, NADK, PRKCZ, SLC35E2, SLC35E2B, SSU72, TMEM240, TMEM52, TMEM88B, VWA1
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv3870
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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