A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4269634



Internal ID11552172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45729168..45729240hg38UCSC Ensembl
chr17:43806534..43806606hg19UCSC Ensembl
chr17:41162317..41162389hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1593331
Supporting Variants
SamplesHuRef
Known GenesCRHR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4269634
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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