A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4044731



Internal ID11717143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88729728..88732783hg38UCSC Ensembl
chr2:89029246..89032300hg19UCSC Ensembl
chr2:88810361..88813415hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383056
hg193055
hg183055
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1532292
Supporting Variants
SamplesHuRef
Known GenesRPIA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4044731
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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