A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3608280



Internal ID12153588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235010842..235010911hg38UCSC Ensembl
chr2:235919486..235919555hg19UCSC Ensembl
chr2:235584225..235584294hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1367526
Supporting Variants
SamplesHuRef
Known GenesSH3BP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3608280
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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