A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2111392



Internal ID2507742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238430421..238430482hg19UCSC Ensembl
Outerchr2:238430231..238430657hg19UCSC Ensembl
Innerchr2:238095160..238095221hg18UCSC Ensembl
Outerchr2:238094970..238095396hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4934794
SamplesNA18507
Known GenesMLPH
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2111392
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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