A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614538



Internal ID7001431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:110790772..110792286hg38UCSC Ensembl
Innerchr7:110790772..110792286hg38UCSC Ensembl
Outerchr7:110790601..110792475hg38UCSC Ensembl
chr7:110430828..110432342hg19UCSC Ensembl
Innerchr7:110430828..110432342hg19UCSC Ensembl
Outerchr7:110430657..110432531hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381515
hg191515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12926469, essv12926459, essv12926482, essv12926453, essv12926464, essv12926457, essv12926454, essv12926449, essv12926460, essv12926478, essv12926471, essv12926444, essv12926474, essv12926447, essv12926450, essv12926440, essv12926443, essv12926445, essv12926473, essv12926463, essv12926472, essv12926438, essv12926483, essv12926441, essv12926468, essv12926452, essv12926480, essv12926465, essv12926477, essv12926446, essv12926462, essv12926484, essv12926476, essv12926455, essv12926475, essv12926458, essv12926481, essv12926470, essv12926456, essv12926466, essv12926442, essv12926451, essv12926461, essv12926479, essv12926467, essv12926439, essv12926448
SamplesHG03121, HG03163, HG01885, HG02973, HG02419, NA18504, NA20332, HG03126, HG03515, HG03139, HG02589, NA19190, NA19098, NA18510, NA19107, HG03385, HG03168, NA19315, HG03135, HG02952, NA20320, HG02840, NA18916, NA18498, NA20287, NA19130, NA18520, HG03225, NA19908, HG02968, HG02470, HG02537, HG03472, HG01988, HG03567, NA19390, NA19149, HG03127, HG03103, NA19818, NA20348, HG02974, NA19472, HG02051, HG01082, NA19153, NA19431
Known GenesIMMP2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614538
Frequency
Sample Size2504
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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