A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3687740



Internal ID11727444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201685251..201685320hg38UCSC Ensembl
chr2:202549974..202550043hg19UCSC Ensembl
chr2:202258219..202258288hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1285681
Supporting Variants
SamplesHuRef
Known GenesMPP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3687740
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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