A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764000



Internal ID10378036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64306602..64814873hg38UCSC Ensembl
Innerchr7:63766980..64275251hg19UCSC Ensembl
Innerchr7:63404415..63912686hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38508272
hg19508272
hg18508272
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990865, essv6990863, essv6990864
SamplesSW_0816, SW_0860, SW_0203
Known GenesLOC100128885, LOC641746, MIR6839, YWHAEP1, ZNF107, ZNF138, ZNF680, ZNF736
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)esv2764000
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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