A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4039727



Internal ID11375461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127979504..127979593hg38UCSC Ensembl
chr2:128737078..128737167hg19UCSC Ensembl
chr2:128453548..128453637hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1357413
Supporting Variants
SamplesHuRef
Known GenesSAP130
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4039727
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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