A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3996786



Internal ID11765087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122853402..122853557hg38UCSC Ensembl
chr12:123337949..123338104hg19UCSC Ensembl
chr12:121903902..121904057hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38156
hg19156
hg18156
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1123331
Supporting Variants
SamplesHuRef
Known GenesHIP1R
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3996786
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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