A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3882727



Internal ID11879144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31344672..31344846hg38UCSC Ensembl
chr14:31813878..31814052hg19UCSC Ensembl
chr14:30883629..30883803hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1624128
Supporting Variants
SamplesHuRef
Known GenesHEATR5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3882727
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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