A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617301



Internal ID7004187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56563296..56564572hg38UCSC Ensembl
Innerchr8:56563330..56564538hg38UCSC Ensembl
Outerchr8:56563262..56564606hg38UCSC Ensembl
chr8:57475855..57477131hg19UCSC Ensembl
Innerchr8:57475889..57477097hg19UCSC Ensembl
Outerchr8:57475821..57477165hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204536, essv13204532, essv13204535, essv13204538, essv13204529, essv13204530, essv13204531, essv13204533, essv13204534, essv13204537
SamplesHG02784, HG02688, HG03009, HG03706, HG04042, HG03685, HG03990, HG02725, HG02790, NA20887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617301
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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