A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19396



Internal ID9617442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129818076..130799717hg38UCSC Ensembl
Innerchr2:130575649..131557290hg19UCSC Ensembl
Innerchr2:130292119..131273760hg18UCSC Ensembl
Innerchr2:130291879..131391022hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38981642
hg19981642
hg18981642
hg171099144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA11840
Known GenesAMER3, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAR2P1, FAR2P2, GPR148, IMP4, LOC389033, LOC646743, MED15P9, MZT2B, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, TUBA3E
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)essv19396
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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