A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11570



Internal ID9608748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16444556..17157486hg38UCSC Ensembl
Innerchr1:16771051..17483981hg19UCSC Ensembl
Innerchr1:16643638..17356568hg18UCSC Ensembl
Innerchr1:16516357..17229287hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38712931
hg19712931
hg18712931
hg17712931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757725
Supporting Variants
SamplesNA19173
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MFAP2, MIR3675, MST1L, MST1P2, NBPF1, NECAP2, PADI2, SDHB
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)essv11570
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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