A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628856



Internal ID6668997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24095693..24098984hg38UCSC Ensembl
Innerchr12:24095700..24098978hg38UCSC Ensembl
Outerchr12:24095687..24098991hg38UCSC Ensembl
chr12:24248627..24251918hg19UCSC Ensembl
Innerchr12:24248634..24251912hg19UCSC Ensembl
Outerchr12:24248621..24251925hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383292
hg193292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410961
SamplesHG03464
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628856
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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