A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12066548



Internal ID899222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134127012..134128153hg38UCSC Ensembl
Innerchr5:134127012..134128153hg38UCSC Ensembl
Outerchr5:134126756..134128428hg38UCSC Ensembl
chr5:133462703..133463844hg19UCSC Ensembl
Innerchr5:133462703..133463844hg19UCSC Ensembl
Outerchr5:133462447..133464119hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381142
hg191142
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606842
Supporting Variants
SamplesHG00524
Known GenesTCF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12066548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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