A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4166230



Internal ID11448768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177351412..177351539hg38UCSC Ensembl
chr2:178216140..178216267hg19UCSC Ensembl
chr2:177924386..177924513hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1117358
Supporting Variants
SamplesHuRef
Known GenesLOC100130691
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4166230
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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