A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013554



Internal ID10000382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29869537..29937088hg38UCSC Ensembl
Innerchr6:29837314..29904865hg19UCSC Ensembl
Innerchr6:29945293..30012844hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3867552
hg1967552
hg1867552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761013
Supporting Variants
SamplesRW_0552
Known GenesHCG4B, HLA-H
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7013554
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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