A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1571329



Internal ID12387764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181491256..181491571hg38UCSC Ensembl
chr2:182355983..182356298hg19UCSC Ensembl
chr2:182064228..182064543hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38316
hg19316
hg18316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4096357
SamplesHuRef
Known GenesITGA4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1571329
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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