A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1250656



Internal ID12067093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62686157..62686496hg38UCSC Ensembl
chr1:63151828..63152167hg19UCSC Ensembl
chr1:62924416..62924755hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38340
hg19340
hg18340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3942870
SamplesHuRef
Known GenesDOCK7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1250656
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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