A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676919



Internal ID9596338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48610054..48612860hg38UCSC Ensembl
Outerchr17:48609683..48613230hg38UCSC Ensembl
Innerchr17:46687416..46690222hg19UCSC Ensembl
Outerchr17:46687045..46690592hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5826327, essv5779256, essv6544029, essv6565868, essv5840946, essv5658854, essv6358201, essv5913769, essv6447811, essv6004996, essv6075344, essv6297458, essv6264072, essv6000955, essv5685584, essv6366481, essv6490005, essv5595966, essv5828211, essv5503298, essv6180295, essv5922446, essv5499011
SamplesHG01441, HG01356, HG01462, HG01359, HG01389, HG01465, HG01461, HG01140, HG01366, HG01351, HG01354, HG01134, HG01440, HG01353, HG01136, HG01497, HG01148, HG01489, HG01342, HG01491, HG01251, HG01378, HG01437
Known GenesHOXB7, HOXB8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676919
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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