A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5431307



Internal ID8408710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542573..237544979hg38UCSC Ensembl
Outerchr2:237542202..237545349hg38UCSC Ensembl
Innerchr2:238451216..238453622hg19UCSC Ensembl
Outerchr2:238450845..238453992hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657165
Supporting Variants
SamplesNA19776
Known GenesMLPH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5431307
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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