A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1756820



Internal ID12919938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31657166..31657166hg38UCSC Ensembl
chr7:31696780..31696780hg19UCSC Ensembl
chr7:31663305..31663305hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38576
hg19576
hg18576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4115580
SamplesHuRef
Known GenesCCDC129
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1756820
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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