A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3961694



Internal ID11800178
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1234122
Supporting Variants
SamplesHuRef
Known GenesNACA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3961694
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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