A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12664483



Internal ID1833264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1455573..1456341hg38UCSC Ensembl
Innerchr7:1455623..1456285hg38UCSC Ensembl
Outerchr7:1455447..1456467hg38UCSC Ensembl
chr7:1495209..1495977hg19UCSC Ensembl
Innerchr7:1495259..1495921hg19UCSC Ensembl
Outerchr7:1495083..1496103hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611808
Supporting Variants
SamplesHG01704
Known GenesMICALL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12664483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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