A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991966



Internal ID10359909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:156505268..156518254hg38UCSC Ensembl
Innerchr7:156297962..156310948hg19UCSC Ensembl
Innerchr7:155990723..156003709hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3812987
hg1912987
hg1812987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764053
Supporting Variants
SamplesSW_0804
Known GenesLINC01006
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)essv6991966
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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