A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3723215



Internal ID11691969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122525799..122526128hg38UCSC Ensembl
chr12:123010346..123010675hg19UCSC Ensembl
chr12:121576299..121576628hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1035767
Supporting Variants
SamplesHuRef
Known GenesRSRC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3723215
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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