A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1234122



Internal ID12397247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56718147..56718216hg38UCSC Ensembl
chr12:57111931..57112000hg19UCSC Ensembl
chr12:55398198..55398267hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3961694
SamplesHuRef
Known GenesNACA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1234122
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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