A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1781344



Internal ID12944462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108188819..108188819hg38UCSC Ensembl
chr7:107829263..107829263hg19UCSC Ensembl
chr7:107616499..107616499hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386068
hg196068
hg186068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4297368
SamplesHuRef
Known GenesNRCAM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1781344
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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