A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1624128



Internal ID12787249
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3882727
SamplesHuRef
Known GenesHEATR5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1624128
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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