A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3676047



Internal ID12085822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41730129..41730129hg38UCSC Ensembl
chr17:39886381..39886381hg19UCSC Ensembl
chr17:37139907..37139907hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1060250
Supporting Variants
SamplesHuRef
Known GenesHAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3676047
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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