A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3852899



Internal ID11908972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238110068..238110481hg38UCSC Ensembl
chr2:239018709..239019122hg19UCSC Ensembl
chr2:238683448..238683861hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38414
hg19414
hg18414
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1409806
Supporting Variants
SamplesHuRef
Known GenesESPNL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3852899
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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