A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4328802



Internal ID11611340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81416500..81416500hg38UCSC Ensembl
chr17:79390300..79390300hg19UCSC Ensembl
chr17:77004895..77004895hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1130130
Supporting Variants
SamplesHuRef
Known GenesBAHCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4328802
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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