A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4300136



Internal ID11235988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225612829..225612829hg38UCSC Ensembl
chr2:226477545..226477545hg19UCSC Ensembl
chr2:226185789..226185789hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1558776
Supporting Variants
SamplesHuRef
Known GenesNYAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4300136
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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