A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4056403



Internal ID11358785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82099424..82099761hg38UCSC Ensembl
chr7:81728740..81729077hg19UCSC Ensembl
chr7:81566676..81567013hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38338
hg19338
hg18338
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1301171
Supporting Variants
SamplesHuRef
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4056403
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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