A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630527



Internal ID6670663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99424337..99426175hg38UCSC Ensembl
Innerchr12:99424358..99426155hg38UCSC Ensembl
Outerchr12:99424317..99426196hg38UCSC Ensembl
chr12:99818115..99819953hg19UCSC Ensembl
Innerchr12:99818136..99819933hg19UCSC Ensembl
Outerchr12:99818095..99819974hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381839
hg191839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14586899, essv14586892, essv14586900, essv14586897, essv14586898, essv14586893, essv14586896, essv14586895, essv14586894
SamplesHG00245, NA12005, HG00111, HG00269, NA12763, HG03604, HG00262, NA11829, HG02505
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630527
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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