A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615470



Internal ID6655669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:150855865..150865234hg38UCSC Ensembl
Innerchr7:150855865..150865234hg38UCSC Ensembl
Outerchr7:150855573..150865431hg38UCSC Ensembl
chr7:150552953..150562322hg19UCSC Ensembl
Innerchr7:150552953..150562322hg19UCSC Ensembl
Outerchr7:150552661..150562519hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg389370
hg199370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13010741, essv13010739, essv13010735, essv13010736, essv13010737, essv13010738, essv13010740, essv13010734, essv13010742
SamplesHG00380, HG02104, HG01086, HG01092, NA12762, HG01965, HG00150, NA11843, NA19664
Known GenesAOC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615470
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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