A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761004



Internal ID10028366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151528892..152050641hg38UCSC Ensembl
Innerchr6:151850027..152371776hg19UCSC Ensembl
Innerchr6:151891720..152413469hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38521750
hg19521750
hg18521750
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014322, essv7014324, essv7014320, essv7014321, essv7014325
SamplesRW_0634, RW_0630, RW_0618, RW_0178, RW_0626
Known GenesCCDC170, ESR1
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)esv2761004
Frequency
Sample Size1109
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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