A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23004



Internal ID9621453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142618692..143027060hg38UCSC Ensembl
Innerchr7:142326242..142724147hg19UCSC Ensembl
Innerchr7:142007198..142434269hg18UCSC Ensembl
Innerchr7:141813913..142240984hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38408369
hg19397906
hg18427072
hg17427072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758137
Supporting Variants
SamplesNA12812
Known GenesC7orf34, EPHB6, KEL, MTRNR2L6, OR9A2, PRSS1, PRSS2, PRSS3P2, TRPV5, TRPV6
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)essv23004
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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