A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606950



Internal ID6993885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140415506..140420193hg38UCSC Ensembl
Innerchr5:140416006..140419693hg38UCSC Ensembl
Outerchr5:140414506..140421193hg38UCSC Ensembl
chr5:139795091..139799778hg19UCSC Ensembl
Innerchr5:139795591..139799278hg19UCSC Ensembl
Outerchr5:139794091..139800778hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384688
hg194688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12076777
SamplesHG02573
Known GenesANKHD1, ANKHD1-EIF4EBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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