A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618840



Internal ID7005722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131039734..131043024hg38UCSC Ensembl
Innerchr8:131039734..131043024hg38UCSC Ensembl
Outerchr8:131039234..131043524hg38UCSC Ensembl
chr8:132051980..132055270hg19UCSC Ensembl
Innerchr8:132051980..132055270hg19UCSC Ensembl
Outerchr8:132051480..132055770hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383291
hg193291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13330690, essv13330698, essv13330701, essv13330684, essv13330696, essv13330688, essv13330686, essv13330707, essv13330709, essv13330691, essv13330700, essv13330689, essv13330695, essv13330702, essv13330697, essv13330694, essv13330692, essv13330703, essv13330687, essv13330685, essv13330708, essv13330704, essv13330699, essv13330705, essv13330693, essv13330706
SamplesNA18998, HG02496, HG02318, NA21115, HG02285, NA18962, HG01277, NA21107, NA19036, HG02104, HG01275, HG00349, HG01344, HG01271, HG02511, NA18939, NA19118, HG02089, NA19473, HG01272, NA18992, NA12874, NA18994, NA19185, NA19146, NA19214
Known GenesADCY8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618840
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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