A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14374586



Internal ID4376402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428701..10444437hg38UCSC Ensembl
Innerchr12:10429201..10443937hg38UCSC Ensembl
Outerchr12:10427701..10445437hg38UCSC Ensembl
chr12:10581300..10597036hg19UCSC Ensembl
Innerchr12:10581800..10596536hg19UCSC Ensembl
Outerchr12:10580300..10598036hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815737
hg1915737
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628538
Supporting Variants
SamplesHG00881
Known GenesKLRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14374586
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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