A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023440



Internal ID1995739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113152598..113162192hg38UCSC Ensembl
Innerchr5:113152635..113162155hg38UCSC Ensembl
Outerchr5:113152561..113162229hg38UCSC Ensembl
chr5:112488295..112497889hg19UCSC Ensembl
Innerchr5:112488332..112497852hg19UCSC Ensembl
Outerchr5:112488258..112497926hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg389595
hg199595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606310
Supporting Variants
SamplesHG01849
Known GenesMCC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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