A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891142



Internal ID19185538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:71815314..72215718hg38UCSC Ensembl
Outerchr7:71815314..72215718hg38UCSC Ensembl
Innerchr7:71280299..71680703hg19UCSC Ensembl
Outerchr7:71280299..71680703hg19UCSC Ensembl
Innerchr7:70918235..71318639hg18UCSC Ensembl
Outerchr7:70918235..71318639hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38400405
hg19400405
hg18400405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797964
Samples
Known GenesCALN1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891142
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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