A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20254



Internal ID9618397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16530732..16799163hg38UCSC Ensembl
Innerchr1:16857227..17125658hg19UCSC Ensembl
Innerchr1:16729814..16998245hg18UCSC Ensembl
Innerchr1:16602533..16870964hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38268432
hg19268432
hg18268432
hg17268432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757725
Supporting Variants
SamplesNA12144
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
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)essv20254
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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