A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4977



Internal ID9626614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16437838..16799163hg38UCSC Ensembl
Innerchr1:16764333..17125658hg19UCSC Ensembl
Innerchr1:16636920..16998245hg18UCSC Ensembl
Innerchr1:16509639..16870964hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38361326
hg19361326
hg18361326
hg17361326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757725
Supporting Variants
SamplesNA18637
Known GenesCROCCP2, CROCCP3, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1, NECAP2
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)essv4977
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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